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Ambiguous genitalia in neonates: a 4-year prospective study in a localized area

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Abstract
This study aimed to determine the possible etiology of ambiguous genitalia in 41 newborn infants at a referral hospital in Hofuf city, Saudi Arabia. In 46,XX karyotype patients [‎n = 14]‎, congenital adrenal hyperplasia and general malformation disorder were the most common causes of genital ambiguity, while in 46,XY karyotype patients [‎n = 18]‎, testosterone pathway biosynthetic defect was the most common cause even in conjunction with a generalized malformation disorder. In patients with abnormal karyotype [‎n = 3]‎, 1 had trisomy 18 [‎47,XX]‎ and died after 3 months and 2 had different types of mosaic Turner syndrome. The karyotype was undetermined in 6 patients. Positive family history of ambiguous genitalia was noted in 4 patients
Citation
Al Mulhim, A.N. & Kamal, H.M. (‎2010)‎. Ambiguous genitalia in neonates: a 4-year prospective study in a localized area. EMHJ - Eastern Mediterranean Health Journal, 16 (‎2)‎, 214-217, 2010 https://apps.who.int/iris/handle/10665/117845
Journal
EMHJ - Eastern Mediterranean Health Journal, 16 (‎2)‎, 214-217, 2010
Description
214-217
ISSN
1020-3397
Other Identifiers
http://applications.emro.who.int/emhj/V16/02/16_2_2010_0214_0217.pdf
Language
English
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